ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.6490C>T (p.Arg2164Trp)

dbSNP: rs2124149645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001533080 SCV001748900 likely pathogenic ARID1A-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001786495 SCV002028543 uncertain significance not provided 2021-05-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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